Breast carcinoma, and Hypertonia

Diseases related with Breast carcinoma and Hypertonia

In the following list you will find some of the most common rare diseases related to Breast carcinoma and Hypertonia that can help you solving undiagnosed cases.


Top matches:

Medium match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY


Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Medium match LYNCH SYNDROME


LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Low match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

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Other less relevant matches:

Low match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match PANCREATIC CANCER


Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009). Genetic Heterogeneity of Pancreatic CancerSomatic mutations in pancreatic cancer occur in the KRAS (OMIM ), CDKN2A (OMIM ), MADH4 (OMIM ), TP53 (OMIM ), ARMET (OMIM ), STK11 (OMIM ), ACVR1B (OMIM ), and RBBP8 (OMIM ) genes.Susceptibility loci for pancreatic cancer include PNCA1 (OMIM ), related to mutation in the PALLD gene on chromosome 4q32 (OMIM ); PNCA2 (OMIM ), related to mutation in the BRCA2 gene on chromosome 13q12 (OMIM ); PNCA3 (OMIM ), related to mutation in the PALB2 gene on chromosome 16p12 (OMIM ); and PNCA4 (OMIM ), related to mutation in the BRCA1 gene on chromosome 17q21 (OMIM ). Occurrence of Pancreatic Cancer in Other DisordersSeveral familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see {120435}); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome (OMIM ); the melanoma-pancreatic cancer syndrome (OMIM ), caused by mutations in CDKN2A (OMIM ); von Hippel-Lindau syndrome (OMIM ), ataxia-telangiectasia (OMIM ) (Swift et al., 1976), and juvenile polyposis syndrome (OMIM ).Patients with hereditary pancreatitis (OMIM ) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1 ) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% (Lowenfels et al., 1997).

PANCREATIC CANCER Is also known as pancreatic carcinoma|pancreatic acinar carcinoma

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PANCREATIC CANCER

Low match MAFFUCCI SYNDROME


Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.

MAFFUCCI SYNDROME Is also known as maffucci syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MAFFUCCI SYNDROME

Low match SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME


Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.

SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME Is also known as solamen syndrome

Related symptoms:

  • Macrocephaly
  • Congestive heart failure
  • Papule
  • Talipes
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME

Low match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Low match APOCRINE GLAND SECRETION, VARIATION IN


APOCRINE GLAND SECRETION, VARIATION IN Is also known as cerumen, variation in|wet wax|ww|colostrum secretion, variation in|ear wax, wet/dry|axillary odor, variation in|ewwd

Related symptoms:

  • Neoplasm
  • Breast carcinoma
  • Abnormality of the ear


SOURCES: OMIM MENDELIAN

More info about APOCRINE GLAND SECRETION, VARIATION IN

Top 5 symptoms//phenotypes associated to Breast carcinoma and Hypertonia

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Ovarian neoplasm Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Hypertonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Telangiectasia Carcinoma Ataxia Muscular hypotonia Global developmental delay Scoliosis Subcutaneous nodule Intestinal polyposis Macrocephaly Neurological speech impairment Multiple cafe-au-lait spots Lymphoma Weight loss Neoplasm of the breast Recurrent infections Leukemia Gait disturbance Anemia Cognitive impairment Hamartoma Muscle weakness Generalized hypotonia Arteriovenous malformation Neoplasm of the thyroid gland Strabismus Failure to thrive Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases


Acute lymphoblastic leukemia Hodgkin lymphoma Prematurely aged appearance Cerebral palsy Neoplasm of the adrenal cortex Lymphopenia Cafe-au-lait spot Intention tremor Type II diabetes mellitus Decreased antibody level in blood Abnormal cerebellum morphology Diabetes mellitus Immunodeficiency Tremor Cellular immunodeficiency Myopia Decreased proportion of CD4-positive T cells Papule Hamartomatous polyposis Astrocytoma Meningioma Lipoma Hashimoto thyroiditis Multiple lipomas Cutis marmorata Intracranial hemorrhage Goiter Melanoma Hemangioma Cranial nerve paralysis Broad thumb Pectus excavatum Mucosal telangiectasiae Myopathy Frontal bossing Pain Micrognathia Narrow palate Macroglossia Hypothyroidism Visceral angiomatosis Short nose Hydrocephalus Recurrent fractures Brachydactyly Cataract Hearing impairment Pancreatic adenocarcinoma Narrow mouth Pituitary adenoma Fatigue Pneumonia Developmental regression Anxiety Nausea and vomiting Thrombocytopenia Abdominal pain Autism Growth delay Microcephaly Diarrhea Nystagmus Increased intracranial pressure Hemiplegia/hemiparesis Delayed gross motor development Delayed speech and language development Dysarthria Motor delay Hepatocellular carcinoma Flexion contracture Neoplasm of the pancreas Colon cancer Dysdiadochokinesis Hand polydactyly Furrowed tongue Cerebral atrophy Papilledema Incoordination Palmoplantar hyperkeratosis Abnormality of the uterus Encephalopathy Hypopigmented skin patches Alopecia Melanocytic nevus Microphthalmia Macule Renal cell carcinoma Abnormality of the vasculature Prolactin excess Optic atrophy Skin tags Scaphocephaly Ventriculomegaly Thyroiditis Abnormality of the thyroid gland Megalencephaly Fever Acute myeloid leukemia Cellulitis Cystic hygroma Hydrocele testis Hepatomegaly Hyperthyroidism Exotropia Drooling Brushfield spots High palate Low-set ears Tetraplegia Febrile seizures Hypertelorism Acute megakaryocytic leukemia Left-to-right shunt Round ear Transient myeloproliferative syndrome Downslanted palpebral fissures Crackles Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Duodenal stenosis Abnormality of the lymphatic system Myeloproliferative disorder Iris coloboma Lethargy Neoplasm of the skin Polymicrogyria Gynecomastia Bone cyst Chronic diarrhea Agenesis of corpus callosum Hyperactivity Overgrowth Hypoplasia of the maxilla Palmoplantar keratoderma Joint hypermobility Atrial septal defect Abnormality of the kidney Intellectual disability, moderate Proximal muscle weakness Autistic behavior Dilatation Headache Kyphosis Intellectual disability, mild Coloboma Ovarian cyst Generalized hyperkeratosis Long penis Congestive heart failure Upper limb asymmetry Lymphangioma Excessive wrinkled skin Venous insufficiency Lower limb asymmetry Reduced bone mineral density Talipes Neoplasm of the parathyroid gland Long philtrum Hemangiomatosis Osteochondroma Multiple enchondromatosis Multiple exostoses Chondrosarcoma Parathyroid adenoma Osteosarcoma Exostoses Anteverted nares Delayed skeletal maturation Neurofibromas Irregular hyperpigmentation Abnormal large intestine morphology Uterine neoplasm Abdominal wall muscle weakness Subcutaneous hemorrhage Thyroid carcinoma Angina pectoris Abnormality of the optic nerve Capillary hemangioma Aortic aneurysm Macrotia Cachexia Lymphedema Tall stature Nevus Wide nose Joint hyperflexibility Dolichocephaly Hypoglycemia Pathologic fracture Sarcoma Cavernous hemangioma Angioid streaks of the fundus Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Abnormality of the penis Pseudopapilledema Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Neoplasm of the central nervous system Complete atrioventricular canal defect Fibroma Papilloma Enlarged polycystic ovaries Progressive macrocephaly Acrokeratosis Venous thrombosis Lobular carcinoma in situ Osteolysis Bone pain Dysphagia Increased level of L-fucose in urine Chronic pancreatitis Exocrine pancreatic insufficiency Pancreatitis Jaundice Multiple trichilemmomata Transitional cell carcinoma of the bladder Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Short middle phalanx of the 5th finger Thickened nuchal skin fold Pulmonary edema Truncal ataxia Athetosis Spinal muscular atrophy Polycystic ovaries Slurred speech Reduced tendon reflexes Oculomotor apraxia Recurrent pneumonia Abnormality of the hair Combined immunodeficiency Abnormal vertebral morphology Sinusitis Limb ataxia Bronchiectasis Irritability Choreoathetosis Abnormal pyramidal sign Pancytopenia Glucose intolerance Premature graying of hair Apraxia Severe combined immunodeficiency Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Hypopigmentation of hair Resting tremor Behavioral abnormality IgA deficiency Depressivity Myeloid leukemia Abnormality of the immune system Telangiectasia of the skin Constipation Aplasia/Hypoplasia of the skin Attention deficit hyperactivity disorder Hepatitis Hypoplasia of the thymus Cardiac diverticulum Cerebellar atrophy Hallucinations Peripheral neuropathy Basal cell carcinoma Spasticity Visual field defect Neuroblastoma Urinary tract neoplasm Neoplasm of the rectum Memory impairment Abnormality of creatine metabolism Neoplasm of the skeletal system Benign neoplasm of the central nervous system Agnosia Glioblastoma multiforme Leiomyosarcoma Amaurosis fugax Dysgraphia Dystonia Gastrointestinal hemorrhage Malabsorption Delayed puberty Chorea Progressive cerebellar ataxia Paresthesia Polyneuropathy Distal amyotrophy Unsteady gait Abnormality of movement Abnormality of eye movement Dyskinesia Recurrent respiratory infections Distal muscle weakness Abnormality of the liver Respiratory tract infection Elevated hepatic transaminase Difficulty walking Gait ataxia Migraine Myoclonus Absent Achilles reflex Chronic lymphatic leukemia Hypoxemia Aspiration Spastic tetraplegia Bilateral single transverse palmar creases Aganglionic megacolon Open mouth Depressed nasal ridge Thick lower lip vermilion Microdontia Postural instability Renal hypoplasia/aplasia Neutropenia Single transverse palmar crease Downturned corners of mouth Postaxial polydactyly Short palm Flat face Anal atresia Hypotrichosis Sandal gap Cholelithiasis Joint laxity Neurofibrillary tangles Acute monocytic leukemia Senile plaques Hypoplastic iliac wing Double outlet right ventricle Prostate cancer Thrombocytosis Protruding tongue Polycythemia Congenital hypothyroidism Alzheimer disease Impaired pain sensation Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Transposition of the great arteries Broad palm Atrioventricular canal defect Decreased fertility Hydroureter Microtia Hydronephrosis Abnormality of chromosome stability Uraciluria Reduced dihydropyrimidine dehydrogenase activity Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Aplasia/Hypoplasia of the thymus Depressed nasal bridge Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Elevated alpha-fetoprotein Abnormal spermatogenesis Visual impairment Chronic myelogenous leukemia Conjunctival telangiectasia Recurrent aspiration pneumonia Hypertension Conductive hearing impairment Obesity Umbilical hernia Leukopenia Polydactyly Brachycephaly Upslanted palpebral fissure Dementia Clinodactyly of the 5th finger Abnormal heart morphology Abnormality of cardiovascular system morphology Epicanthus Malar flattening Hypoventilation Abnormality of the dentition Edema Aspiration pneumonia Short neck Diffuse cerebral atrophy Stomatitis Abnormality of the ear



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